Pane mumwe munhu mumhuri yako ane chirwere cheDanon here? Ngatikurukurei nezvazvo!

Wakambonzwa nezveDanon Disease here? Zita iri ringave idzva kwauri. Ichirwere chisingawanzoitiki, chine majini chisingabate vanhu vazhinji. Asi zvakakosha kuziva nezvazvo nekuti zvinogona kukanganisa mwoyo, tsandanyama, maziso, uye kunyange uropi. Ngatitaurei nezvazvo zvakadzama nhasi.

Chii chinonzi Danon Disease?

Zvichitaurwa zviri nyore, Danon Disease chirwere chisingawanzoitiki chinogona kupfuudzwa kuburikidza nemajini edu kubva kuchizvarwa kuenda kune chimwe. Chinogona kukuvadza nhengo dzakasiyana dzemuviri wedu, kunyanya moyo, tsandanyama, retina, neuropi . Zvisinei, havasi vese vanozosangana nezviratidzo zvakafanana, zvinosiyana kubva kumunhu kusvika kumunhu.

Danon Disease iri muboka guru rezvirwere zvinonzi 'Lysosomal Storage Disorders' (LSD). Kune marudzi anopfuura makumi mashanu ezvirwere pasi peboka iri. Fungidzira, mukati memasero edu mune zvikamu zvakaita semafekitori madiki anonzi 'lysosomes'. Basa guru reizvi nderekuputsa nekuchenesa zvinhu zvisingadiwi nemarara anogadzirwa mukati memasero. Zvakafanana nekubvisa marara mumba medu.

Saka, masero emunhu ane chirwere ichi che'Lysosomal Storage Disorder' haakwanise kuita basa iri nemazvo. Chii chinoitika ipapo? Zvinhu zvisingadiwe, chepfu, zvinotanga kuungana mukati memasero. Nekufamba kwenguva, chepfu idzi dzinoungana dzinokuvadza masero uye, kuburikidza nawo, nhengo dzemuviri. Izvi ndizvo zvinoitika muchirwere cheDanon.

Chirwere ichi chinogara nhaka . Izvi zvinoreva kuti chinowanzo pfuudzwa kubva kuvabereki kuenda kuvana. Zvikuru sei, vakomana ndivo vane mukana wekuwana chirwere ichi uye vane zviratidzo zvakanyanya kupfuura vasikana.

Ndezvipi zviratidzo zveDanon Disease?

Kunyange zvazvo zviratidzo zveDanon Disease zvichisiyana kubva pamunhu kuenda kumunhu, pane zviratidzo zvikuru zvakawanda zvinogona kuonekwa:

• Cardiomyopathy: Ichi ndicho chiratidzo chekutanga chinoonekwa. Chinogona kusanganisira kurwadziwa muchipfuva kana kuoma, kuneta, kukwenya kana kurova muchipfuva. Dzimwe nguva, kushaya mweya uye kuzvimba mumakumbo zvinogonawo kuitika.
• Kushaya simba kwetsandanyama (Myopathy): Fungidzira, unonetseka kugara pachigaro, kufamba, kana kuti unonzwa kushaya simba kumusana, mutsipa, mapfudzi, maoko ekumusoro, kana makumbo ekumusoro. Kana uri mwana mudiki, unogona kurasikirwa nechido chekumhanya nekutamba, kana kuti unganetseka kukwira masitepisi. Izvi zviratidzo zvekushaya simba kwetsandanyama.
• Matambudziko emaziso (Retinopathy): Izvi zvinogona kukonzera kusaona zvakanaka, kuyerera kwemaziso, kana kupenya kwechiedza. Izvi zvinogona kuita kuti zviomere kuverenga kana kuona TV.
• Kuremara kwepfungwa: Izvi zvinonyanya kuitika kuvakomana. Matambudziko ekuzvibata, akadai sekuchinja kwemaitiro paunenge uri pedyo nevamwe, uye kunonoka kutaura kana mutauro, zvinowanzoitika. Kunyangwe zvisingawanzoitiki, matambudziko epfungwa anogonawo kuitika. Mienzaniso inosanganisira kuoma kuisa pfungwa pabasa rechikoro uye kunonoka kudzidza zvinhu zvitsva.

Kubata sei murume kana mukadzi

Muvakomana, zviratidzo zvinowanzotanga kuonekwa vachiri vadiki, kureva kuti, panguva yehudiki kana kuyaruka . Uye zviratidzo izvi zvinogona kukura nekukurumidza uye kuva zvakanyanya.

Asi kana ukatarisa vasikana, dzimwe nguva panogona kunge pasina zviratidzo zvachose. Kana kuti, zviratidzo zvinogona kuonekwa pakupera kwekuyaruka kana kutanga kwekukura. Zviratidzo muvasikana zvinowanzotanga zvishoma nezvishoma, uye kazhinji hazvinyanyi kuoma. Zvisinei, zvakakosha kuyeuka kuti mune dzimwe nguva zvinogona kunge zvakanyanya.

Mhando dzeCardiomyopathy

Kune mhando mbiri huru dzechirwere chemwoyo dzinoonekwa muDanon Disease:

• Hypertrophic Cardiomyopathy: Iyi ndiyo mhando inonyanya kuwanikwa. Zvichitaurwa zviri nyore, kukora kwetsandanyama dzemwoyo kusingawanzoitiki.
• Dilated Cardiomyopathy: Izvi zvinonyanya kuitika kuvakadzi. Apa ndipo panowanikwa makamuri emwoyo akakura uye mwoyo unoshaya simba.

Ndezvipi zvikonzero zveDanon Disease?

Chikonzero chikuru cheDanon Disease kuchinja, kana kuti kuchinja-chinja, mune rimwe jini rinonzi `LAMP2`. Sezvamunoziva, zvese zviri mumuviri wedu zvinodzorwa nemajini. Kungofanana nesoftware iri mukombuta, majini aya anodzidzisawo mashandiro emuviri wedu.

Saka, vaongorori vanotenda kuti kana paine shanduko mujini iri re'LAMP2', panenge paine dambudziko pamadziro kana membrane yechikamu chesero chinonzi lysosome chandambotaura. Zvisinei, hapasati pave nekunzwisisa kwakajeka kwezana muzana kwekuti chirwere ichi chinoitika sei. Tsvagiridzo ichiri kuenderera mberi pane izvozvo.

Chirwere cheDanon chinoonekwa sei?

Kana iwe kana chiremba wako mukaona zviratidzo zveDanon Disease, vanogona kuzvifungira. Chiremba wako achakubvunza nezvezviratidzo zvako. Pamusoro pezvo, vachaita bvunzo dzakawanda kuti vasimbise Danon Disease uye vabvise zvimwe zvirwere.

Kunyanya, kuongororwa kweDNA (kuongororwa kwemajini) kunobatsira kuona chirwere ichi. Izvi zvinogona kuona nemazvo kana paine shanduko mujini re'LAMP2'.

Zvichienderana nezviratidzo zvako, chiremba wako anogona kukurudzira kuongororwa kwakawanda. Semuenzaniso:

• Kuongororwa kweropa (Kuongororwa kweropa murabhoritari).
• Kuongororwa kwemaziso.
• Ultrasound. (kana kuti ultrasound).
• bvunzo yeCT scan (computer tomography scan).
• Bvunzo reMRI (magnetic resonance imaging).
• Kuongororwa kwetsandanyama dzemapfupa ( chidimbu chidiki chetsandanyama chinotorwa choongororwa).

Kunewo bvunzo dzemwoyo dzakakosha kuti uone kuti mwoyo uri kushanda zvakanaka sei:

• Kuongororwa kwemoyo - kuongororwa kwemoyo (kutora chidimbu chidiki chemoyo kuti chiongororwe).
• MRI yemoyo.
• Kuongororwa kweECG (Electrocardiogram - EKG) (kunyoresa mashandiro emagetsi emwoyo).

Ndezvipi zvimwe zvirwere zvakafanana neDanon Disease?

Kune mamwe matambudziko ehutano ane zviratidzo zvakafanana neDanon Disease. Ndosaka zvichikosha kuti uwane chirwere chakarurama. Heano mamwe ezvirwere ane zviratidzo zvakafanana:

• Chirwere chekuchengetedza glycogen (GSD) chemwoyo.
• Kuvhiyiwa kwevacuolar muvana vacheche.
• Zvimwe zvirwere zvemwoyo, semuenzaniso sarcomeric hypertrophic cardiomyopathy kana dilated cardiomyopathy.
• Chirwere chePompe.
• Wolff-Parkinson-White (WPW) syndrome – Izvi zvinogona kuonekwa pamwe chete nechirwere cheDanon.
• Myopathy ine hukama neX ine autophagy yakawandisa.

Izvi zvinganzwika sezvakaoma, asi vanachiremba vanofunga zvese izvi vobva vawana chirwere chaicho.

Ndeipi mishonga yekurapa chirwere cheDanon?

Kurapwa kweDanon Disease kunoenderana nezviratidzo zvako uye kuoma kwazvo. Chikwata chako chekurapa chichashanda newe kugadzira hurongwa hwekurapa hwakakunakira. Izvi zvinogona kusanganisira:

• Zvishandiso zvekubatsira: Semuenzaniso, magirazi emaziso kana zvimwe zvinhu zvinobatsira kuona, zvinhu zvinobatsira kunzwa, chifambiso, kana wiricheya.
• Kurapa kwepfungwa - kurapwa nekutaura kana kutaura.
• Kana paine matambudziko ekudzidza, rubatsiro rwedzidzo runowanikwa.
• Kurapa kwemuviri kusimbisa tsandanyama.

Kana uine matambudziko emwoyo, chiremba wako anogona kukukurudzira zvinhu zvakaita se:

• Muchina wekudzikisa BP (ICD) unoshandiswa kurapa kusagadzikana kwemoyo (arrhythmia).Kana izvi zvikaita kuti kurova kwemoyo kuite sekusarongeka kamwe kamwe, zvinogona kugadziriswa.
• Chishandiso cheHolter chekunyora mashandiro emoyo wako mukati mezuva.
• Mishonga yekudzora matambudziko emwoyo, kunyanya cardiomyopathy.
• Kurapa kwakadai sekurapa kwe ablation kurapa kurova kwemoyo kusina kurongeka.

Kana chirwere chemwoyo chikawedzera nekukurumidza, kuisirwa moyo kunogona kudiwa. Kuongororwa nekukurumidza uye kurapwa kwakakosha kudzivirira matambudziko anotyisidzira hupenyu akadai sekufa kamwe kamwe kwemwoyo uye kutadza kushanda kwemoyo nekukurumidza .

Ndiani anogona kuva muchikwata changu chekurapa?

Pakurapa chirwere cheDanon, chiremba mumwe chete haana kukwana. Zvinoda timu yenyanzvi. Nyanzvi idzi dzinoshanda nePrimary Care Provider (PCP) yako kuti ikubatsire. Chikwata chako chinogona kusanganisira:

• Chiremba wemwoyo: Nyanzvi mumoyo netsinga dzeropa.
• Nyanzvi dzekuchengetedza maziso / Nyanzvi yemaziso: Kune matambudziko ane chekuita nemaziso.
• Nyanzvi yezvemajini: Munhu anonyanya kudzidza nezvemajini.
• Chiremba wepfungwa: Chiremba ane hunyanzvi muuropi, musana, uye tsinga.
• Nyanzvi yetsinga dzemuviri: Nyanzvi yetsandanyama netsinga.

Zvichienderana nehutano hwako uye migumisiro yaunosangana nayo, timu iyi yezvekurapa ichaongorora mishonga yako uye marapirwo ako uye ichachinja chero zvinodiwa.

Chirwere cheDanon chinogona kurapwa here?

Zvinosuwisa kuti hapana mushonga weDanon Disease. Zvisinei, chiremba wako anogona kukurudzira mishonga inogona kubatsira kudzora zviratidzo zvako uye kuchengetedza hutano hwako uye hupenyu hwako hwepamusoro. Saka chinhu chakakosha kutevedzera zano rachiremba wako usingatyi.

Ndeipi tarisiro yeDanon Disease?

Maonero eDanon Disease, kureva kuti, kuti chirwere ichi chichakubata sei, zvinoenderana nezvinhu zvakati wandei. Izvi zvinosanganisira zviratidzo zvako, kuti zvakakomba sei, uye kuti chirwere ichi chinokurumidza sei kukura. Chiremba wako anogona kukupa mazano akanakisisa nezvemamiriro ako chaiwo ehutano.

Chirwere cheDanon uye Nguva Yehupenyu

Paavhareji, hupenyu hwevarume vane Danon Disease hunosvika makore gumi nemapfumbamwe, uye hwevakadzi hunosvika makore makumi matatu nemana. Vanhu vazhinji vanoda kuisirwa moyo. Zvakajairika kuti unzwe kutya paunoona nhamba idzi. Asi yeuka, idzi ingori avhareji. Munhu wese akasiyana.

Chikwata chenyu chezvekurapa chichashanda nemi kugadzirisa zviratidzo zvenyu. Vachakudzidzisaiwo kuti imi nemhuri yenyu mungawana kupi rubatsiro rwamunoda.

Ndingaderedza here njodzi yemwana wangu yekubatwa neDanon Disease?

Danon Disease inokonzerwa nekuchinja kwemajini. Saka, hapana chaunogona kuita kuderedza njodzi yemwana wako yekuwana chirwere ichi. Kana mumwe munhu mumhuri yako aine Danon Disease, zvakanaka kutaura nachiremba wako nezvekuongororwa kwemajini emwana asati aberekwa, izvo zvinogona kuitwa panguva yekuzvitakura .

Ndiani akatanga kuwana chirwere cheDanon?

Chirwere ichi chakatanga kutsanangurwa muna 1981 naMaurice Danon, MD, chiremba wepfungwa wekuAmerica. Akasvika pamhedziso iyi mushure mekuongorora varwere vaviri vechidiki vaiva nepfungwa dzakaremara, mwoyo yakakura (cardiomegaly), uye tsandanyama dzisina simba (proximal myopathy).

Kuziva kuti une chirwere chisingawanzoitiki chemajini chakadai kunogona kuva kwakaoma uye kunorema. Paunotanga kurarama nechirwere ichi, edza kuchitora zuva nezuva. Wana rubatsiro kubva kuchikwata chako chekurapa, shamwari, nemhuri. Nekuti chirwere ichi hachiwanzoitiki, ungangodawo kuudza vamwe nezvazvo. Kunyangwe online, zvinogona kuoma kuwana vamwe vanhu vari mumamiriro ezvinhu akafanana. Zvisinei, unogona kuwana rutsigiro mumapoka anobatanidza varwere nemhuri dzine zvimwe zvirwere zvisingawanzoitiki kana matambudziko emwoyo.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Chirwere cheDanon chirwere chinonetsa. Zvisinei, yeuka zvinhu izvi:

• Chirwere cheDanon chirwere chinokonzerwa nemajini. Hachikonzerwi nemhosva yemunhu.
• Zviratidzo hazvifanani kune wese munhu. Pane musiyano pakati pevarume nevakadzi.
• Zvakakosha zvikuru kuona chirwere ichi nekukurumidza uye kutanga kurapwa. Izvi zvinogona kuderedza matambudziko.
• Kunyange hazvo chirwere ichi chisingarapike zvachose, kune mishonga inogona kudzora zviratidzo.
• Hausi wega. Chikwata chevanachiremba vane hunyanzvi, mhuri, uye mapoka ekutsigirana varipo kuti vakubatsire.
• Mazano ezvemajini anogona kukosha zvikuru kumhuri.

Nekutevera marapirwo anokurudzirwa navanachiremba vako uye vachitungamirirwa navo, unogona kurarama hupenyu hwakanaka kwazvo. Tinovimba kuti ruzivo urwu ruchakubatsira.

'Chirwere cheDanon, chirwere cheDanon, chirwere chemajini, chirwere chemwoyo, Cardiomyopathy, kushaya simba kwetsandanyama, Lysosomal Storage Disorder, LAMP2 gene